PDZ Domain-Containing Protein 8

Alternative Names

PDZD8

Length

98,167 bases

No. of Exons

No. of isoforms

Protein Name

PDZ domain-containing protein 8

Molecular Mass

128563 Da

Amino Acid Count

1154

Genomic Location

chr10:117,277,274-117,375,440

Gene Map Locus

10q25.3-q26.11

Description

PDZD8 is a cytoskeletal regulatory protein that interacts with moesin and regulates stable microtubule abundance. Both MSN and PDZD8 suppress herpes simplex virus (HSV)-1 infection, but PDZD8 also promotes human immunodeficiency (HIV)-1 infection. [From OMIM]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_173791.5:c.2197_2200del	Oman	NC_000010.11:g.117284536_117284539del	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Autism and Dysmorphic Facies	NM_173791.5:c.2197_2200del; NP_776152.1:p.Ser733Ter		1703715
NM_173791.5:c.894C>G	United Arab Emirates	NC_000010.11:g.117341081G>C	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Autism and Dysmorphic Facies	NM_173791.5:c.894C>G; NP_776152.1:p.Tyr298Ter	770780478	1703716

Download Table

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=pdzd8

Contributors

Pratibha Nair: 04.07.2022

Edit History

Pratibha Nair: 06.09.2022
Pratibha Nair: 04.07.2022

Back to search Result